نتایج جستجو برای: deirdre shauna lynch

تعداد نتایج: 4046  

Journal: :Cirugia espanola 2011
Manuel Ferrer Márquez Angel Reina Duarte Vanesa Maturana Ibáñez Ricardo Belda Lozano Francisco Rubio Gil Isabel Blesa Sierra María del Mar Rico Morales

Hereditary nonpolyposis colorectal cancer or Lynch Syndrome, caused by germinal mutations in mismatch deoxyribonucleic acid (DNA) repair genes, is the most common form of hereditary colorectal cancer. The identification of these individuals is not easy and is based on clinical and molecular criteria. A review is presented on the genetics and diagnosis in Lynch Syndrome, as well as on its surgic...

Journal: :Sao Paulo medical journal = Revista paulista de medicina 2009
Felipe Cavalcanti Carneiro da Silva Mev Dominguez Valentin Fábio de Oliveira Ferreira Dirce Maria Carraro Benedito Mauro Rossi

Lynch syndrome represents 1-7% of all cases of colorectal cancer and is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in deoxyribonucleic acid (DNA) mismatch repair genes. Since the discovery of the major human genes with DNA mismatch repair function, mutations in five of them have been correlated with susceptibility to Lynch syndrome: mutS homolog ...

2017
Stefan Haraldsson Louise Klarskov Mef Nilbert Inge Bernstein Jesper Bonde Susanne Holck

BACKGROUND Hereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX). Differences in genetics, demographics and histopathology have been extensively studied. The purpose of this study is to characterize their immunoprofile of markers other than MMR proteins. METHODS We compared the expression patterns of cytokeratins (CK7 and CK20), muci...

2013
Mev Dominguez Valentin Cristina Therkildsen Srinivas Veerla Mats Jönsson Inge Bernstein Mef Nilbert

INTRODUCTION Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects. PURPOSE We addressed the gene expression signatures in colorectal cancer linked to Lynch syndrome and FCCTX with the aim to ident...

Journal: :Logopedia Silesiana 2022

Echolalia is a natural phenomenon in the development of child speech. After 30 months age, echolalia becomes pathological phenomenon, most often associated with deficits ability to initiate and sustain social interaction. Researchers argue about role acquisition language communication skills people autism spectrum disorder. They are trying answer question whether an inhibiting factor or it can ...

2016
Natalie Taylor Janet C. Long Deborah Debono Rachel Williams Elizabeth Salisbury Sharron O’Neill Elizabeth Eykman Jeffrey Braithwaite Melvin Chin

BACKGROUND Lynch syndrome is an inherited disorder associated with a range of cancers, and found in 2-5 % of colorectal cancers. Lynch syndrome is diagnosed through a combination of significant family and clinical history and pathology. The definitive diagnostic germline test requires formal patient consent after genetic counselling. If diagnosed early, carriers of Lynch syndrome can undergo in...

Journal: :Cancer research 2006
Heather Hampel Wendy Frankel Jenny Panescu Janet Lockman Kaisa Sotamaa Daniel Fix Ilene Comeras Jennifer La Jeunesse Hidewaki Nakagawa Judith A Westman Thomas W Prior Mark Clendenning Pamela Penzone Janet Lombardi Patti Dunn David E Cohn Larry Copeland Lynne Eaton Jeffrey Fowler George Lewandowski Luis Vaccarello Jeffrey Bell Gary Reid Albert de la Chapelle

Endometrial cancer is the most common cancer in women with Lynch syndrome. The identification of individuals with Lynch syndrome is desirable because they can benefit from increased cancer surveillance. The purpose of this study was to determine the feasibility and desirability of molecular screening for Lynch syndrome in all endometrial cancer patients. Unselected endometrial cancer patients (...

2017
Caroline Kientz Marie-Odile Joly Laurence Faivre Alix Clemenson Sophie Dalac Côme Lepage Caroline Chapusot Caroline Jacquot Renaud Schiappa Marine Lebrun

BACKGROUND The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectr...

Journal: :British Journal of Surgery 2021

Abstract Introduction 12% of cancers in the UK are colorectal origin1 with 1-3% secondary to genetic mismatch repair due Lynch syndrome2, for which 2017 NICE guidance recommended that patients cancer (CRC) be tested3. It increases risk developing other such as endometrial, ovarian and small bowel1, changes oncological treatment offered CRC patients4,5, prompts investigation their relatives cond...

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